HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34788784C>A , CM000677.2:g.34788784C>A | GRCh38 |
NC_000015.9:g.35080985C>A , CM000677.1:g.35080985C>A | GRCh37 |
NC_000015.8:g.32868277C>A | NCBI36 |
NG_007553.1:g.11943G>T , LRG_388:g.11943G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000290378.4:c.*1628G>T (ACTC1) | ENSP00000290378.4:n.*1628G>T | |
NM_005159.4:c.*1628G>T , LRG_388t1:c.*1628G>T (ACTC1) | NP_005150.1:n.*1628G>T | |
NR_120329.1:n.299+11353C>A (GJD2-DT) |